Genetic Testing in Pregnancy – Why It's Offered and What It Means

Genetic testing in pregnancy can feel overwhelming. What's the difference between screening and diagnostic testing? What is cell-free DNA? Do you have to do any of these tests? And what happens if a result comes back abnormal? In this episode of Pregnancy Matters, host Dr. Anna Staniczenko is joined by Dr. Jeffrey Kuller, a maternal-fetal medicine specialist and clinical geneticist at Duke University, to walk through the basics of genetic testing in pregnancy. Together, they explain: The difference between screening tests and diagnostic tests What carrier screening looks for before or during pregnancy How non-invasive prenatal screening (cell-free DNA) works What CVS and amniocentesis can tell you that blood tests cannot How accurate these tests are and what "false positive" or "low fetal fraction" really mean What happens next if a result is abnormal How to decide which tests (if any) are right for you Most importantly, this episode emphasizes that genetic testing is about information and choice. Every family is different, and there is no one "right" path—only what feels right for you. For additional resources, visit HighRiskPregnancyInfo.org, and check out the fact sheet on cell-free DNA testing. Subscribe to Pregnancy Matters wherever you listen to podcasts to stay up to date with expert, evidence-based information about high-risk pregnancy.